Prader-Willi syndrome and a deletion/duplication within the 15q11-q13 region

被引:32
作者
Butler, MG [1 ]
Bittel, D [1 ]
Talebizadeh, Z [1 ]
机构
[1] Univ Missouri, Sch Med, Childrens Mercy Hosp & Clin, Sect Med Genet & Mol Med, Kansas City, MO 64108 USA
关键词
D O I
10.1136/jmg.39.3.202
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:202 / 204
页数:3
相关论文
共 23 条
  • [1] Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints
    Amos-Landgraf, JM
    Ji, YG
    Gottlieb, W
    Depinet, T
    Wandstrat, AE
    Cassidy, SB
    Driscoll, DJ
    Rogan, PK
    Schwartz, S
    Nicholls, RD
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (02) : 370 - 386
  • [2] Inherited interstitial duplications of proximal 15q: Genotype-phenotype correlations
    Browne, CE
    Dennis, NR
    Maher, E
    Long, FL
    Nicholson, JC
    Sillibourne, J
    Barber, JCK
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (06) : 1342 - 1352
  • [3] BUNDEY S, 1994, DEV MED CHILD NEUROL, V36, P736
  • [4] BUTLER MG, 1989, AM J HUM GENET, V45, P140
  • [5] PRADER-WILLI SYNDROME - CURRENT UNDERSTANDING OF CAUSE AND DIAGNOSIS
    BUTLER, MG
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 35 (03): : 319 - 332
  • [6] BUTLR MG, 2000, J ENDOCRINOL, V10, pS3
  • [7] Prader-Willi syndrome
    Cassidy, SB
    [J]. JOURNAL OF MEDICAL GENETICS, 1997, 34 (11) : 917 - 923
  • [8] CHRISTIAN SI, 1995, AM J HUM GENET, V57, P40
  • [9] Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb
    Christian, SL
    Bhatt, NK
    Martin, SZ
    Sutcliffe, JS
    Kubota, T
    Huang, B
    Mutirangura, A
    Chinault, AC
    Beaudet, AL
    Ledbetter, DH
    [J]. GENOME RESEARCH, 1998, 8 (02): : 146 - 157
  • [10] Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13)
    Christian, SL
    Fantes, JA
    Mewborn, SK
    Huang, B
    Ledbetter, DH
    [J]. HUMAN MOLECULAR GENETICS, 1999, 8 (06) : 1025 - 1037